Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Proinflammatory response induced by the ex vivo mutant cystatin C protein aggregates suggests that vascular inflammation plays an important role in hereditary cerebral hemorrhage with amyloidosis-Icelandic type.
|
23273574 |
2013 |
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
|
0.770 |
Biomarker
|
disease |
CTD_human |
A drastic reduction in the life span of cystatin C L68Q carriers due to life-style changes during the last two centuries.
|
18566660 |
2008 |
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
|
0.770 |
Biomarker
|
disease |
BEFREE |
To evaluate possible cytotoxicity in this condition solubilized cystatin C amyloid extracted from HCHWA-I leptomeninges was applied to cerebral smooth muscle cells in culture and was found to kill the cells.
|
17963746 |
2007 |
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
A variant of the cysteine protease inhibitor, cystatin C, forms amyloid deposited in the cerebral vasculature of patients with hereditary cerebral hemorrhage with amyloidosis, Icelandic type (HCHWA-I), leading to cerebral hemorrhages early in life.
|
16612983 |
2006 |
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Distinct properties of wild-type and the amyloidogenic human cystatin C variant of hereditary cerebral hemorrhage with amyloidosis, Icelandic type.
|
11299325 |
2001 |
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
|
0.770 |
Biomarker
|
disease |
BEFREE |
The protein, a mutant of the cysteine protease inhibitor cystatin C, is the amyloid precursor protein in Hereditary Cerebral Hemorrhage with Amyloidosis--Icelandic type (HCHWA-I).
|
10524281 |
1999 |
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Instability of the amyloidogenic cystatin C variant of hereditary cerebral hemorrhage with amyloidosis, Icelandic type.
|
9565605 |
1998 |
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Cystatin C mutation in an elderly man with sporadic amyloid angiopathy and intracerebral hemorrhage.
|
7482672 |
1995 |
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
|
0.770 |
Biomarker
|
disease |
BEFREE |
Cystatin-C is an amyloidogenic protein causing hereditary cerebral haemorrhage with amyloidosis-Icelandic type (HCHWA-I).
|
8361651 |
1993 |
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
|
0.770 |
GeneticVariation
|
disease |
UNIPROT |
Hereditary cystatin C amyloid angiopathy: identification of the disease-causing mutation and specific diagnosis by polymerase chain reaction based analysis.
|
1352269 |
1992 |
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
|
0.770 |
GermlineCausalMutation
|
disease |
ORPHANET |
Stroke in Icelandic patients with hereditary amyloid angiopathy is related to a mutation in the cystatin C gene, an inhibitor of cysteine proteases.
|
2541223 |
1989 |
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
|
0.770 |
GeneticVariation
|
disease |
UNIPROT |
Stroke in Icelandic patients with hereditary amyloid angiopathy is related to a mutation in the cystatin C gene, an inhibitor of cysteine proteases.
|
2541223 |
1989 |
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Molecular cloning and sequence analysis of cDNA coding for the precursor of the human cysteine proteinase inhibitor cystatin C.
|
3495457 |
1987 |
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
|
|
|